Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

doi:10.1126/SCIENCE.280.5366.1077

Journal ArticleDOI

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

David G. Wang, +52 more

- 15 May 1998 -

Science

- Vol. 280, Iss: 5366, pp 1077-1082

TLDR

A large-scale survey for SNPs was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips, and a genetic map was constructed showing the location of 2227 candidate SNPs.

Abstract:

Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

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Journal ArticleDOI

Multiplex-Ready PCR: A new method for multiplexed SSR and SNP genotyping

Matthew J. Hayden, +3 more

- 18 Feb 2008 -

BMC Genomics

TL;DR: A new method for multiplex PCR that facilitates fluorescence-based SSR genotyping and the multiplexed preparation of DNA templates for SNP assays is described, and several advantages of multiplex-ready PCR for SSR and SNP genotypesing are demonstrated and discussed.

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Thomas Lehrnbecher, +6 more

- 15 Dec 1999 -

Blood

TL;DR: Data is presented that should serve as the foundation for the interpretation of association studies involving multiple variant alleles of the low-affinity FcgammaR.

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Forensically relevant SNP classes.

Bruce Budowle, +1 more

- 01 Apr 2008 -

BioTechniques

TL;DR: The SNP markers will serve an important role in analyzing challenging forensic samples, such as those that are very degraded, for augmenting the power of kinship analyses and family reconstructions for missing persons and unidentified human remains, and for providing investigative lead value in some cases without a suspect.

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Single-Tube Genotyping without Oligonucleotide Probes

Soren Germer, +1 more

- 01 Jan 1999 -

Genome Research

TL;DR: The development of a self-contained (homogeneous), single-tube assay for the genotyping of single-nucleotide polymorphisms (SNPs), which does not rely on fluorescent oligonucleotide probes, and is recommended both as a simple and inexpensive diagnostic tool for genotyped medically relevant SNPs and as a high-throughput SNP genotypesing method for gene mapping.

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Paths to understanding the genetic basis of autoimmune disease

John D. Rioux, +2 more

- 02 Jun 2005 -

Nature

TL;DR: Marked advances in genetic resources and tools are now making it possible to identify the sequence variants that contribute to autoimmune diseases — promising a better understanding of how the authors normally remain tolerant of their own tissue components, and how this goes wrong in autoimmune disease.

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